Naxos disease
Findings
No curated finding names Naxos disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.
Definition from the Mondo Disease Ontology (MONDO:0011017), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 1 of 1 reported patient
- AcantholysisHPOHP:0100792
- 1 of 1 reported patient
- Diffuse palmoplantar hyperkeratosisHPOHP:0007447
- 1 of 1 reported patient
- Epidermal acanthosisHPOHP:0025092
- 1 of 1 reported patient
- Fragile skinHPOHP:0001030
- 5 of 5 reported patients
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- Palmoplantar keratodermaHPOHP:0000982
Show the remaining 19
- Abnormality of hair textureHPOHP:0010719
- Very frequent (80% to 99% of cases)
- ArrhythmiaHPOHP:0011675
- 0 of 5 reported patients
- Very frequent (80% to 99% of cases)
- CardiomyopathyHPOHP:0001638
- Very frequent (80% to 99% of cases)
- Paroxysmal ventricular tachycardiaHPOHP:0004751
- Very frequent (80% to 99% of cases)
- VertigoHPOHP:0002321
- Very frequent (80% to 99% of cases)
- T-wave inversionHPOHP:0010872
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- JUPHGNC:6207
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: Naxos disease
- Also called
- keratoderma with woolly hair type Ikeratoderma with wooly hair type Ikeratosis palmoplantaris with arrythmogenic cardiomyopathyKWWH type INXDpalmoplantar hyperkeratosis with arrythmogenic cardiomyopathypalmoplantar keratoderma with arrythmogenic cardiomyopathy